Sequencing of Von Hippel-Lindau (VHL) Gene from Genomic DNA for Mutation Detection in Italian Patients

Genomic DNA from patients suspected to have VHL were analysed by direct sequencing of the VHL gene-coding region for mutation detection. Sequencing was performed on the extracted DNA following amplification by Polymerase Chain Reaction (PCR) with suitably designed primers. Genetic analysis revealed...

Full description

Saved in:
Bibliographic Details
Published inEJIFCC Vol. 17; no. 1; pp. 12 - 16
Main Authors Akanni, O E, Ferrari, M
Format Journal Article
LanguageEnglish
Published Italy The Communications and Publications Division (CPD) of the IFCC 01.03.2006
Subjects
mutation
VHL gene
tumour suppressor
von Hippel-Lindau disease
polymerase chain reaction
Online AccessGet full text

Cover

More Information
Summary:Genomic DNA from patients suspected to have VHL were analysed by direct sequencing of the VHL gene-coding region for mutation detection. Sequencing was performed on the extracted DNA following amplification by Polymerase Chain Reaction (PCR) with suitably designed primers. Genetic analysis revealed a single base substitution in exon 3 of each of the two patients causing the R161X (stop codon) being a de novo mutation and the R176W missense mutation, respectively. The genetic and familial studies indicated that the VHL disease is inherited as a dominant trait.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1650-3414
1650-3414